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1.
Am J Med Genet A ; : e63867, 2024 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-39271919

RESUMO

Talipes equinovarus, also called clubfoot, is a relatively common congenital defect affecting approximately one in every 1000 live births. Most cases of clubfoot are expected to be idiopathic and unrelated to an underlying genetic syndrome. In approximately 20% of cases, a clear genetic etiology is identified. Here we present two cases of bilateral clubfoot identified via fetal ultrasound in the first trimester associated with osteogenesis imperfecta diagnosed in the second trimester. Both fetuses presented with multiple fractures and were identified to have loss-of-function variants in COL1A1. An association between clubfeet in the first trimester and osteogenesis imperfecta has not been previously reported to the best of our knowledge, which leads to unique opportunities for prompt diagnosis, genetic counseling and testing, and appropriate management.

2.
Acta Obstet Gynecol Scand ; 103(1): 51-58, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37942915

RESUMO

INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient. RESULTS: In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection. CONCLUSIONS: Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.


Assuntos
Pé Torto Equinovaro , Doenças Neuromusculares , Pé Torto , Gravidez , Feminino , Criança , Humanos , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , Amniocentese , Estudos Retrospectivos , Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Líquido Amniótico
3.
BMC Musculoskelet Disord ; 25(1): 638, 2024 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-39134994

RESUMO

PURPOSE: Review the literature and describe the complications associated with each of the anterior tibial tendon transfer (ATTT) techniques described. METHODS: A systematic review of the literature was performed with the keywords ''clubfoot'', ''Ponseti'' and ''anterior tibial''. Studies in patients with clubfoot recurrence, who underwent ATTT, whose method of tendon fixation was different from the classical method, were included. RESULTS: Six studies were included in this systematic review, which described multiple techniques for tibialis anterior fixation: bone anchors, interference screws, endobotton, K-wires, transosseous suture, and suture to the plantar fascia. In the papers that described postoperative complications, no major complications were reported, however the samples are generally small. CONCLUSION: Several options have now emerged for tendon fixation in tendon transfers around the foot and ankle, including ATTT for treatment of relapsed clubfoot. To our knowledge this is the first paper that questioned the potential complications associated with the use of these new techniques. Due to the scarcity of published works in favor of other fixation methods, we believe that the traditional method is the optimal one for the transfer of the tendon of the tibialis anterior muscle.


Assuntos
Pé Torto Equinovaro , Transferência Tendinosa , Humanos , Pé Torto Equinovaro/cirurgia , Transferência Tendinosa/métodos , Resultado do Tratamento , Recidiva , Complicações Pós-Operatórias/etiologia
4.
BMC Musculoskelet Disord ; 25(1): 604, 2024 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-39080596

RESUMO

BACKGROUND: Clubfoot is one of the most common congenital malformations, but it is also one of the most neglected public health problems among less than five-year-old children, mainly in middle- and low-income countries. Approximately 80% of clubfoot cases are found in low- and middle-income countries. In this study setting, no epidemiological studies have been conducted to assess clubfoot deformity. Due to this gap, the study aimed to assess prevalence, and pattern of congenital club foot among less than 5-year-old children. MATERIALS AND METHODS: An institutional-based cross-sectional study was carried out at Black Lion Specialized Hospital at the pediatric orthopedic clinic. The sample size was 261 to determine the prevalence and pattern of congenital clubfoot. Terms like frequency, percentage, and mean were used for data presentation. RESULT: A total of 36,303 pediatric patients visited Black Lion Specialized Hospital during the study period, and clubfoot prevalence was 7.2 per 1000. The largest subclassification of congenital clubfoot was idiopathic clubfoot, which accounted for 6.2 per 1000, whereas syndromic clubfoot was 0.3 per 1000, and neuropathic clubfoot was shared at 0.36 per 1000. Most of the cases in this study were bilateral clubfoot, with males having more dominance. CONCLUSION: In the area under investigation, a significant prevalence of congenital clubfoot was observed, especially among male children. The majority of cases were bilateral, with idiopathic clubfoot being the dominant form.


Assuntos
Pé Torto Equinovaro , Humanos , Pé Torto Equinovaro/epidemiologia , Estudos Transversais , Prevalência , Masculino , Feminino , Pré-Escolar , Etiópia/epidemiologia , Lactente
5.
Int Orthop ; 48(9): 2465-2473, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38758492

RESUMO

PURPOSE: Idiopathic clubfoot (ICF) involves structural abnormalities in the lower extremities. Approximately half of patients have unilateral ICF, which could be due to differences in limb formation. The contralateral unaffected foot may have subclinical ICF. The objectives were to compare ankle and foot kinematics and pedobarography findings between the unaffected foot of patients with unilateral ICF and controls. METHODS: Eleven children with unilateral ICF (11 unaffected feet, 11.7 ± 3.8 years) and 15 age-matched controls (30 control feet, 11.1 ± 3.0 years) were enroled. Five complete gait trials were performed. Data were collected using ten cameras and a two m long Footscan system and compared between groups using the Wilcoxon rank sum test. RESULTS: All children with ICF underwent the selective soft tissue release procedure. The unaffected feet showed limited ranges in inversion-eversion and dorsiflexion-plantar flexion on kinematic analysis. There was a delay in landing time in all regions of the foot during heel rise and propulsion. The peak time was achieved significantly later in the unaffected feet compared to the controls. Although plantar pressure parameters were comparable, unaffected feet showed a larger contact area in the midfoot region. CONCLUSIONS: Gait data on the unaffected foot in unilateral ICF patients do not correspond to those of controls despite an indistinguishable clinical appearance. This could be due to the effect of treatment, the process of foot development, or a combination. The relationship between genetics and gait deviation in patients with unilateral ICF needs further evaluation. The unaffected foot should receive similar attention during follow-up.


Assuntos
Pé Torto Equinovaro , , Marcha , Humanos , Pé Torto Equinovaro/fisiopatologia , Fenômenos Biomecânicos/fisiologia , Masculino , Feminino , Criança , Pé/fisiopatologia , Adolescente , Marcha/fisiologia , Estudos de Casos e Controles , Amplitude de Movimento Articular/fisiologia , Análise da Marcha/métodos , Articulação do Tornozelo/fisiopatologia
6.
Int Orthop ; 48(7): 1793-1797, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38602555

RESUMO

PURPOSE: Despite the existence of guidelines for screening for developmental dysplasia of the hip (DDH), there remains controversy regarding the need for routine ultrasound screening for DDH in patients with clubfoot due to an unclear correlation between the two conditions. The purpose of this study is to determine whether ultrasound screening for DDH in this population improved the diagnostic accuracy of DDH over standard assessment for patient risk factors and physical exam. METHODS: This is a retrospective cross-sectional review of infants diagnosed with idiopathic clubfoot who underwent hip ultrasounds to assess for DDH as identified by keyword search in an institutional radiological database at a tertiary care paediatric hospital. Patient demographics, risk factors for DDH, physical exam findings, and ultrasound results were recorded. RESULTS: Of the 120 patients who met the inclusion criteria between 2003 and 2018, 8 had hip dysplasia confirmed on ultrasound (6.7%). All these patients either had known risk factors for hip dysplasia or had an abnormal physical exam finding suggestive of hip instability or dislocation as performed by an orthopaedic surgeon on their initial consultation. CONCLUSION: A detailed history to determine risk factors and a thorough physical exam are adequate to determine the need for hip ultrasound in infants with idiopathic clubfoot. Routine ultrasound screening of all patients with clubfoot is likely unnecessary and may pose a significant burden on the health care system.


Assuntos
Pé Torto Equinovaro , Ultrassonografia , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Estudos Retrospectivos , Masculino , Feminino , Estudos Transversais , Ultrassonografia/métodos , Lactente , Fatores de Risco , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/diagnóstico , Recém-Nascido , Exame Físico/métodos , Displasia do Desenvolvimento do Quadril/diagnóstico por imagem , Programas de Rastreamento/métodos
7.
Int Orthop ; 48(6): 1533-1541, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38340143

RESUMO

PURPOSE: The aims of the study were to document the outcomes of percutaneous Achilles tenotomy (pAT) performed in older children with clubfoot, by assessing the clinical, functional and ultrasonographic evidence of Achilles tendon regeneration. METHODS: A retrospective case series of older children with clubfoot treated between August 2011 and July 2020 was studied. Clinical assessment of ankle range of motion and calf strength, functional assessment of triceps surae muscle endurance by single leg heel-rise test, and ultrasonographic assessment of Achilles tendon echotexture and dimensions to assess tendon regeneration were performed. RESULTS: Percutaneous Achilles tenotomy was performed on 31 children (48 clubfeet) at a mean age of 5.24 ± 2.14 years (1-10.2 years). At a mean follow-up of 4.86 ± 1.97 years, all children demonstrated normal calf strength with mean dorsiflexion range of 13.64° (0-25°) and mean plantarflexion range of 37.95° (10-40°). The heel-rise endurance test was completed by 27 children with mean 25.85 heel rises/minute (range 17-30) and mean height of heel rise of 6.29 cm (range 4-10 cm). Normal fibrillar tendinous echotexture with homogenous echogenicity was seen on ultrasonography in 41 feet (85.4%) with mean tendon width of 9.7 mm (3.3-16 mm) and thickness of 5.1 mm (1.8-15 mm), comparable with unaffected feet. CONCLUSIONS: Clinical, functional and ultrasonographic parameters unequivocally demonstrate complete regeneration of the Achilles tendon, when pAT is performed in older children with delayed-presenting idiopathic clubfoot treated using Ponseti principles.


Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Tenotomia , Ultrassonografia , Humanos , Tendão do Calcâneo/cirurgia , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/fisiopatologia , Pé Torto Equinovaro/cirurgia , Pé Torto Equinovaro/fisiopatologia , Tenotomia/métodos , Estudos Retrospectivos , Masculino , Criança , Feminino , Pré-Escolar , Lactente , Regeneração/fisiologia , Amplitude de Movimento Articular/fisiologia , Resultado do Tratamento
8.
Int Orthop ; 48(6): 1553-1560, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38153430

RESUMO

PURPOSE: The purpose of this study is to compare the results of the Oxford Ankle and Foot Questionnaire (OxAFQ) in children with clubfoot in Canada and India to assess its ability to predict outcomes and capture patient experiences in different cultural contexts. METHODS: This is a retrospective study of children with clubfoot in India and Canada who completed the OxAFQ. Statistical analyses were implemented on registry-collected data to test for independent predictors of poor outcomes and compare scores between countries, among children and their parents, and in Canada where relapse data was collected and the effect of a relapse on scores. RESULTS: A total of 361 children were included. The mean Indian OxAFQ scores were higher (p < 0.001) in all domains. Pirani score, tenotomy, laterality, and age at presentation were found to be predictive of outcomes between the sites (p < 0.05). OxAFQ scores decreased after relapse for children in Canada (p < 0.05). Canadian children were found to generally have lower OxAFQ scores in all domains compared to their parents (n = 95; Z = -3.178, -3.493, -3.353, and -3.635 for physical, school and play, emotion, and footwear, respectively; p < 0.001). Indian parents and children showed no significant differences in their scores. CONCLUSIONS: A difference was observed in scores between both sites, suggesting there may be differences in how these populations assess personal health outcomes. These findings support the need for cultural validity of patient-reported outcome measures.


Assuntos
Pé Torto Equinovaro , Medidas de Resultados Relatados pelo Paciente , Humanos , Índia/epidemiologia , Pé Torto Equinovaro/terapia , Pé Torto Equinovaro/cirurgia , Feminino , Masculino , Canadá/epidemiologia , Estudos Retrospectivos , Inquéritos e Questionários , Criança , Pré-Escolar , Lactente , Pais/psicologia , Estudos de Coortes
9.
J Foot Ankle Surg ; 2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38866200

RESUMO

In order to evaluate the early radiographic characteristics of the lateral talocalcaneal (L-TC) angle in patients with idiopathic clubfoot (ICF) and to investigate its prognostic significance for relapse after initial treatment with the Ponseti method. We retrospectively included 151 patients (96 males and 55 females; 227 feet) with ICF treated at our Institution between January 2005 and December 2014. The age at initial treatment was less than 6 months, and radiographs were obtained within 3 months of the Achilles tenotomy (mean age: 2.3 months; range: 0.77-6.8). All patients were followed up for at least 7 years (range, 7-18). The participants' feet were classified into 3 groups: relapsed (Group A), not relapsed (Group B), and normal foot groups which consisted of healthy feet in patients with unilateral ICF (Group C). All angle measurements were expressed in degrees. Forty-seven ICF feet in 33 patients relapsed, while 180 feet in 118 patients did not, and the age at relapse was 5.92 ± 1.91 years. Seventy-five normal feet were included in Group C. The average L-TC angle in Group A and B patients was 33.57° ± 12.05° and 39.37° ± 12.55°, respectively, while Group C was 49.61° ± 9.11°. A significant difference was found among the 3 groups of patients (F = 31.48, p < .001). The L-TC angle cut-off value below which a recurrence could be predicted was 36.1° (sensitivity, 74.47%). The L-TC angle of ICF patients treated using the Ponseti method were reduced compared to normal feet. An L-TC angle of <36.1° has relative value in predicting ICF relapse.

10.
Foot Ankle Surg ; 30(3): 263-267, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38216337

RESUMO

INTRODUCTION: Adults presenting with symptomatic clubfoot represent a challenging cohort of patients. An appreciation of the location and degree of deformities is essential for management. Talar anatomy is often abnormal with varus within the talar neck, however, there are few reproducible methods which quantify talar neck deformity in adults. We describe a technique of assessing talar neck deformity, and report on observed values and intra- / inter-observer reliability. METHODS: This was a single-centre, retrospective study including 96 feet from 56 adult patients with clubfeet (82 feet had clubfoot deformity, 14 were normal). Mean age was 34.3 ± 16.9 years and 31 (55.3%) were male. Weight-bearing CT scans captured as part of routine clinical care were analysed. Image reformats were oriented parallel to the long axis of the talus in the sagittal plane. In the corresponding axial plane two lines were drawn (on separate slices): 1) a line perpendicular to the intermalleolar axis, 2) a line connecting the midpoints of the talar head and narrowest part of the talar neck. The talar neck rotation angle (TNR angle) was the angle formed between these lines. Intraclass correlation coefficients (ICC) were performed for intra- and inter-observer reliability. RESULTS: Mean TNR angle in clubfeet was 27.6 ± 12.2 degrees (95%CI = 25.0 to 30.2 degrees). Mean TNR angle in normal feet was 18.7 ± 5.1 degrees (95%CI = 16.0 to 21.4 degrees) (p < 0.001). The ICC for clubfeet was 0.944 (95%CI = 0.913 to 0.964) for intra-observer agreement, and 0.896 (95%CI = 0.837 to 0.932) for inter-observer agreement. CONCLUSION: This measurement technique demonstrated excellent intra- and inter-observer agreement. It also demonstrated that compared to normal feet, clubfeet had about 9 degrees of increased varus angulation of the talar neck. This technique and data may be used for future research into clubfoot deformity and in planning treatment. LEVEL OF CLINICAL EVIDENCE: 3.


Assuntos
Pé Torto Equinovaro , Tálus , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Rotação , Tálus/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Suporte de Carga
11.
Eur J Orthop Surg Traumatol ; 34(5): 2785-2790, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38772958

RESUMO

OBJECTIVE: This retrospective analysis aimed to assess the effectiveness of Split Tibialis Anterior Tendon Transfer (Split TATT) in treating residual idiopathic congenital talipes equinovarus (CTEV) deformities. METHODS: 15 patients (20 feet) with CTEV, with a mean age of 6.4 ± 3.2 years, initially treated with Ponseti casting, underwent Split TATT. Clinical and radiological evaluations, including Diméglio and Garceau scores, dorsiflexion, and X-ray measurements, were conducted preoperatively and post-operatively at a minimum 2-year follow-up. RESULTS: Significant improvements were observed in Diméglio and Garceau scores. Dorsiflexion increased by an average of 3°, and radiological analysis revealed nuanced changes. Despite a weak Kappa coefficient, positive trends in dorsiflexion and Garceau scores were noted. Preoperative Garceau scores did not reliably predict postoperative results. CONCLUSION: Split TATT demonstrates promising results in improving muscular balance and functional outcomes in CTEV. While radiological changes are subtle, positive trends in clinical scores indicate meaningful outcomes. LEVEL OF EVIDENCE: IV Retrospective study.


Assuntos
Pé Torto Equinovaro , Radiografia , Transferência Tendinosa , Humanos , Transferência Tendinosa/métodos , Pé Torto Equinovaro/cirurgia , Pé Torto Equinovaro/diagnóstico por imagem , Estudos Retrospectivos , Feminino , Masculino , Criança , Pré-Escolar , Resultado do Tratamento , Amplitude de Movimento Articular , Moldes Cirúrgicos
12.
Cell Mol Life Sci ; 79(7): 375, 2022 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-35727412

RESUMO

The SLC25A32 dysfunction is associated with neural tube defects (NTDs) and exercise intolerance, but very little is known about disease-specific mechanisms due to a paucity of animal models. Here, we generated homozygous (Slc25a32Y174C/Y174C and Slc25a32K235R/K235R) and compound heterozygous (Slc25a32Y174C/K235R) knock-in mice by mimicking the missense mutations identified from our patient. A homozygous knock-out (Slc25a32-/-) mouse was also generated. The Slc25a32K235R/K235R and Slc25a32Y174C/K235R mice presented with mild motor impairment and recapitulated the biochemical disturbances of the patient. While Slc25a32-/- mice die in utero with NTDs. None of the Slc25a32 mutations hindered the mitochondrial uptake of folate. Instead, the mitochondrial uptake of flavin adenine dinucleotide (FAD) was specifically blocked by Slc25a32Y174C/K235R, Slc25a32K235R/K235R, and Slc25a32-/- mutations. A positive correlation between SLC25A32 dysfunction and flavoenzyme deficiency was observed. Besides the flavoenzymes involved in fatty acid ß-oxidation and amino acid metabolism being impaired, Slc25a32-/- embryos also had a subunit of glycine cleavage system-dihydrolipoamide dehydrogenase damaged, resulting in glycine accumulation and glycine derived-formate reduction, which further disturbed folate-mediated one-carbon metabolism, leading to 5-methyltetrahydrofolate shortage and other folate intermediates accumulation. Maternal formate supplementation increased the 5-methyltetrahydrofolate levels and ameliorated the NTDs in Slc25a32-/- embryos. The Slc25a32K235R/K235R and Slc25a32Y174C/K235R mice had no glycine accumulation, but had another formate donor-dimethylglycine accumulated and formate deficiency. Meanwhile, they suffered from the absence of all folate intermediates in mitochondria. Formate supplementation increased the folate amounts, but this effect was not restricted to the Slc25a32 mutant mice only. In summary, we established novel animal models, which enabled us to understand the function of SLC25A32 better and to elucidate the role of SLC25A32 dysfunction in human disease development and progression.


Assuntos
Ácido Fólico , Defeitos do Tubo Neural , Animais , Humanos , Camundongos , Carbono/metabolismo , Flavina-Adenina Dinucleotídeo/metabolismo , Ácido Fólico/metabolismo , Formiatos/metabolismo , Glicina/metabolismo , Mitocôndrias/metabolismo , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo
13.
Arch Phys Med Rehabil ; 104(3): 372-379, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36030892

RESUMO

OBJECTIVE: To establish international recommendations for the management of spastic equinovarus foot deformity. DESIGN: Delphi method. SETTING: International study. PARTICIPANTS: A total of 24 international experts (N=24) in neuro-orthopedic deformities, from different specialties (Physical and Rehabilitation Medicine physicians, neurologists, geriatricians, orthopedic surgeons, neurosurgeons, plastic surgeons). INTERVENTIONS: Experts answered 3 rounds of questions related to important aspects of diagnosis, assessment, and treatment of spastic equinovarus foot deformity. MAIN OUTCOME MEASURES: A consensus was established when at least 80% of experts agreed on a statement RESULTS: A total of 52 items reached consensus. Experts recommend assessing effect of the deformity on functional activities before treatment. Before treatment, it is crucial to differentiate spastic muscle overactivity from soft tissue contractures, identify which muscles are involved in the deformity, and evaluate the activity of antagonist muscles. Motor nerve blocks, 2-dimensional video analysis, and radiologic examinations are often required to complement a clinical examination. The treatment of equinovarus foot depends on the correctability of the deformity and the patient's ability to stand or walk. The preoperative assessment should include an interdisciplinary consultation that must finalize a formal agreement between physicians and the patient, which will define personalized attainable goals before surgery. CONCLUSION: The establishment of guidelines on managing equinovarus foot will help physicians and surgeons, specialists, and nonspecialists to diagnoses and assess the deformity and direct patients to a network of experts to optimize patient functional recovery and improve their autonomy.


Assuntos
Pé Torto Equinovaro , Humanos , Espasticidade Muscular , Extremidade Inferior , Caminhada , , Técnica Delphi
14.
BMC Musculoskelet Disord ; 24(1): 784, 2023 Oct 03.
Artigo em Inglês | MEDLINE | ID: mdl-37789312

RESUMO

BACKGROUND: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994-2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance. METHODS: This case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994-2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources. RESULTS: Infants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45-1.58) for isolated and 0.19 (CI 0.17-0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates. CONCLUSIONS: From 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance.


Assuntos
Pé Torto Equinovaro , Lactente , Criança , Humanos , Masculino , Feminino , Pé Torto Equinovaro/epidemiologia , Estudos de Coortes , Prevalência , Fatores de Risco , Dinamarca/epidemiologia
15.
J Digit Imaging ; 36(4): 1419-1430, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37099224

RESUMO

Measurement of angles on foot radiographs is an important step in the evaluation of malalignment. The objective is to develop a CNN model to measure angles on radiographs, using radiologists' measurements as the reference standard. This IRB-approved retrospective study included 450 radiographs from 216 patients (< 3 years of age). Angles were automatically measured by means of image segmentation followed by angle calculation, according to Simon's approach for measuring pediatric foot angles. A multiclass U-Net model with a ResNet-34 backbone was used for segmentation. Two pediatric radiologists independently measured anteroposterior and lateral talocalcaneal and talo-1st metatarsal angles using the test dataset and recorded the time used for each study. Intraclass correlation coefficients (ICC) were used to compare angle and paired Wilcoxon signed-rank test to compare time between radiologists and the CNN model. There was high spatial overlap between manual and CNN-based automatic segmentations with dice coefficients ranging between 0.81 (lateral 1st metatarsal) and 0.94 (lateral calcaneus). Agreement was higher for angles on the lateral view when compared to the AP view, between radiologists (ICC: 0.93-0.95, 0.85-0.92, respectively) and between radiologists' mean and CNN calculated (ICC: 0.71-0.73, 0.41-0.52, respectively). Automated angle calculation was significantly faster when compared to radiologists' manual measurements (3 ± 2 vs 114 ± 24 s, respectively; P < 0.001). A CNN model can selectively segment immature ossification centers and automatically calculate angles with a high spatial overlap and moderate to substantial agreement when compared to manual methods, and 39 times faster.


Assuntos
, Ossos do Metatarso , Humanos , Criança , Pré-Escolar , Estudos Retrospectivos , Estudos de Viabilidade , Pé/diagnóstico por imagem , Ossos do Metatarso/diagnóstico por imagem , Redes Neurais de Computação
16.
Surg Innov ; 30(5): 622-624, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36592420

RESUMO

BACKGROUND: Antonio Scarpa (1752-1832) is generally remembered for his discoveries in the field of anatomy, but he also provided some important contributions to the history of surgery. METHODS: We analyzed main treatises written by Scarpa, highlighting how he contributed to the development of modern surgery. RESULTS: Scarpa made great innovations in three branches of surgery: abdominal surgery (hernia), orthopedics (clubfoot) and vascular surgery (aneurism). Furthermore, he contributed to the birth of modern ophthalmology.


Assuntos
Oftalmologia , Procedimentos Ortopédicos , Ortopedia , Masculino , Humanos
17.
Int Orthop ; 47(4): 1109-1114, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36715714

RESUMO

PURPOSE: There is however gross ambiguity regarding the use of term "foot abduction" in clubfoot treatment. We measured below defined angles at different stages of clubfoot treatment to decipher their precise interpretation. METHODS: In a prospective evaluation of 25 unilateral clubfeet in infants' age less than six months treated with Ponseti technique, clinical leg foot and thigh foot angle were measured at talar head reduction (LHT0), pre-tenotomy, and post-tenotomy stage. A "normal" reference was available in the form of measurements of contralateral limb. RESULTS: Talar head (LHT0) was reduced at mean leg foot angle of 26 degrees. The corresponding pre- and post-tenotomy angles were 42.6 and 50.0 degrees, respectively. The reference leg foot angles for contralateral limb were 49.8 degrees. The thigh foot angle for LHT0, pre-tenotomy, post-tenotomy, and contralateral side were, respectively, 39.2, 56, 68, and 65.6 degrees. There was an additional tibial external rotation component of mean 13.4 degrees (SD 4.5) in the thigh foot angle when compared to the leg foot angle at tenotomy. This increased to 18 degrees (SD 3.4) post-tenotomy. CONCLUSIONS: The study suggested that the foot abduction described in the "Ponseti Manual" probably intends thigh foot rather than leg foot angles. There was a significant difference in the angles when talar head reduced and tenotomy was decided. The foot abduction is an ambiguous term which should be replaced by the more specific leg or thigh foot abduction angle.


Assuntos
Pé Torto Equinovaro , Lactente , Humanos , Pé Torto Equinovaro/cirurgia , Resultado do Tratamento , Moldes Cirúrgicos , Pé/cirurgia , Tenotomia/métodos
18.
Arch Orthop Trauma Surg ; 143(10): 6097-6104, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37195434

RESUMO

INTRODUCTION: The treatment of complex atypical clubfoot poses many challenges. In this paper, we report on the course of complex clubfoot, primary correction using the modified Ponseti method and midterm outcomes. Special consideration is given to clinical and radiological changes in cases of relapse. MATERIALS AND METHODS: Twenty-seven cases of complex, atypical, non-syndromic clubfoot were treated in 16 children between 2004 and 2012. Patient data, treatment data, functional outcomes and, in the relapse cohort, radiological findings were documented during the course of treatment. The radiological findings were correlated with the functional outcomes. RESULTS: All atypical complex clubfeet could be corrected using a modified form of the Ponseti method. Over an average study period of 11.6 years, 66.6% (n = 18) of clubfeet relapsed. Correction after relapse showed an average dorsiflexion of 11.3° during a 5-years' follow-up period. Radiological results showed residual clubfoot pathologies such as a medialized navicular bone in four clubfeet. There were no instances of subluxation or dislocation of the talonavicular joint. Extensive release surgery was not necessary. Nevertheless, after 2.5 preoperative casts (1-5 casts), bone correction was performed in n = 3 feet in addition to Achilles tendon lengthening and tibialis anterior tendon transfer. CONCLUSION: Good primary correction of complex clubfoot using the modified Ponseti technique results in a high recurrence rate in the medium term. Relapse treatment without peritalar arthrolysis procedures produces good functional results even though minor residual radiological pathologies did persist in a minor number of cases.


Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Criança , Humanos , Lactente , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Seguimentos , Resultado do Tratamento , Moldes Cirúrgicos , Tenotomia , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/cirurgia , Recidiva
19.
Arch Orthop Trauma Surg ; 143(11): 6503-6511, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37318629

RESUMO

INTRODUCTION: Overcorrection is a possible complication of clubfoot treatment, whose prevalence varies from 5 to 67%. Overcorrected clubfoot usually presented as a complex flatfoot with different degrees of hindfoot valgus, flat top talus, dorsal bunion, and dorsal navicular subluxation. The management of clubfoot overcorrection is challenging, and both conservative and surgical treatments are available. This study aims to present our experience in the surgical management of overcorrected clubfoot and to provide an overview of actual treatment options for each specific sub-deformity. MATERIALS AND METHODS: A retrospective cohort study of patients surgically treated for an overcorrected clubfoot from 2000 to 2015 at our Institution was conducted. Surgical procedures were tailored to the type and symptomatology of the deformity. A medializing calcaneal osteotomy or subtalar arthrodesis was performed for hindfoot valgus. Subtalar and/or midtarsal arthrodesis were considered in cases of dorsal navicular subluxation. The first metatarsus elevatus was addressed through a proximal plantarflexing osteotomy, sometimes associated with a tibialis anterior tendon transfer. Clinical scores and radiographic parameters were obtained pre-operatively and at the last follow-up. RESULTS: Fifteen consecutive patients were enrolled. The series included 4 females and 11 males, with a mean age at surgery of 33,1 (18-56) years, and a mean follow-up of 4,46 (2-10) years. Seven medializing calcaneal osteotomies, 5 subtalar arthrodesis, 11 first metatarsal plantarflexing osteotomies, and 7 anterior tibialis tendon transfers were performed. A statistically significant improvement in both clinical and radiographic scores was observed. CONCLUSIONS: Management of overcorrected clubfoot involves many surgical techniques because of the high interpersonal variability of the deformities. The surgical approach showed positive results, as long as the indication is based on clinical symptoms and functional impairment rather than morphological alterations and radiographic findings.


Assuntos
Pé Torto Equinovaro , Pé Chato , Tálus , Masculino , Feminino , Humanos , Pé Torto Equinovaro/cirurgia , Estudos Retrospectivos , , Osteotomia/métodos , Pé Chato/diagnóstico por imagem , Pé Chato/cirurgia , Pé Chato/etiologia
20.
Arch Orthop Trauma Surg ; 143(9): 5603-5608, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37052665

RESUMO

INTRODUCTION: This study prospectively investigated the pain response and physiological parameters [heart rate (HR) and oxygen saturation (SpO2)] during sequential casting in bilateral clubfoot. Additionally, it explored the role of non-nutritive sucking and human care contact on the observed responses during casting. METHODS: Subjects were allotted to control group (Group A with no intervention) and two intervention groups (Group B: non-nutritive sucking intervention, Group C: human care contact intervention). Neonatal Infant Pain Score (NIPS), heart rate (HR), and oxygen saturation (SpO2) were used to assess the response. RESULTS: The three groups matched in age and gender characteristics of the participants. Pain response was noted across all groups. The left foot demonstrated a statistically significant preexisting tachycardia which rose further during casting (p < 0.01). Intergroup comparisons revealed that the alteration for NIPS during casting was in following sequence (Group A > C > B, p < 0.00001). The effect of interventions offered in Group B and C lasted in the post-cast period as well (B > C). CONCLUSION: The clubfoot child exhibited moderate pain response during casting of both feet. A tachycardia was noted prior to initiation of second cast which further exaggerated with subsequent cast. Pacifier (non-nutritive sucking) intervention produced better control of pain response than human care contact during casting for both feet.


Assuntos
Pé Torto Equinovaro , Lactente , Recém-Nascido , Humanos , Criança , Pé Torto Equinovaro/terapia , Moldes Cirúrgicos , Resultado do Tratamento , Dor/etiologia
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